title: Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19.
abstract: The myotonic dystrophy (DM) gene is localized to the proximal long arm of chromosome 19. There have been reports of tight linkage to a number of chromosome 19 markers, including APOC2 and creatine kinase muscle type (CKMM), but they did not establish orientation of the 2 markers to DM. We screened several large multi-generational DM families for linkage to a series of chromosome 19 markers including CKMM. CKMM is tightly linked to DM in these data with z(theta) = 28.41; theta = 0.01. Analysis of cross-over data indicates CKMM is on the same side and closer to DM than APOC2. Thus, CKMM is a useful probe for carrier detection studies in presymptomatic individuals as well as for prenatal diagnosis.
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, NC 27710.
authors.forename: L H
authors.initials: LH
authors.lastname: Yamaoka
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: M C
authors.initials: MC
authors.lastname: Speer
authors.forename: P C
authors.initials: PC
authors.lastname: Gaskell
authors.forename: J
authors.initials: J
authors.lastname: Stajich
authors.forename: C
authors.initials: C
authors.lastname: Haynes
authors.forename: W Y
authors.initials: WY
authors.lastname: Hung
authors.forename: C
authors.initials: C
authors.lastname: Laberge
authors.forename: M C
authors.initials: MC
authors.lastname: Thibault
authors.forename: J
authors.initials: J
authors.lastname: Mathieu
mesh_terms: D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D003402:Creatine Kinase / Q000235:genetics*; D003434:Crossing Over, Genetic / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D009132:Muscles / Q000201:enzymology; D009223:Myotonic Dystrophy / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree
chemical_list: D003402:Creatine Kinase